Linked Data
ClinVar Variation Id:
1552024
ClinVar RCV Id:
RCV002178100
dbSNP Id:
rs972997485
COSMIC:
COSM473297
MyVariant Identifiers:
chr17:g.7125374C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7222055C>T , CM000679.2:g.7222055C>T | GRCh38 |
| NC_000017.10:g.7125374C>T , CM000679.1:g.7125374C>T | GRCh37 |
| NC_000017.9:g.7066098C>T | NCBI36 |
| NG_007975.1:g.7222C>T | |
| NG_008391.2:g.2996G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.726C>T MANE Select | ENSP00000349297.5:p.Thr242= | |
| ENST00000322910.9:c.*681C>T | ENSP00000325395.5:n.*681C>T | |
| ENST00000350303.9:c.660C>T | ENSP00000344152.5:p.Thr220= | |
| ENST00000356839.9:c.726C>T | ENSP00000349297.5:p.Thr242= | |
| ENST00000543245.6:c.795C>T | ENSP00000438689.2:p.Thr265= | |
| ENST00000577191.5:n.803C>T | ||
| ENST00000577857.5:n.542C>T | ||
| ENST00000579286.5:n.907C>T | ||
| ENST00000580365.1:n.457C>T | ||
| ENST00000581378.5:c.444C>T | ||
| ENST00000582379.1:n.110C>T | ||
| ENST00000583760.1:n.508C>T | ||
| NM_000018.3:c.726C>T | NP_000009.1:p.Thr242= | |
| NM_001033859.2:c.660C>T | NP_001029031.1:p.Thr220= | |
| NM_001270447.1:c.795C>T | NP_001257376.1:p.Thr265= | |
| NM_001270448.1:c.498C>T | NP_001257377.1:p.Thr166= | |
| XM_006721516.2:c.726C>T | XP_006721579.2:p.Thr242= | |
| XM_011523829.1:c.726C>T | XP_011522131.1:p.Thr242= | |
| XM_011523830.1:c.726C>T | XP_011522132.1:p.Thr242= | |
| XR_934021.1:n.833C>T | ||
| XR_934022.1:n.833C>T | ||
| XR_934023.1:n.833C>T | ||
| XM_006721516.3:c.726C>T | XP_006721579.2:p.Thr242= | |
| XM_011523829.2:c.726C>T | XP_011522131.1:p.Thr242= | |
| XM_011523830.2:c.726C>T | XP_011522132.1:p.Thr242= | |
| XM_024450741.1:c.726C>T | XP_024306509.1:p.Thr242= | |
| XR_934021.2:n.785C>T | ||
| XR_934022.2:n.785C>T | ||
| XR_934023.2:n.785C>T | ||
| NM_000018.4:c.726C>T MANE Select | NP_000009.1:p.Thr242= | |
| NM_001033859.3:c.660C>T | NP_001029031.1:p.Thr220= | |
| NM_001270447.2:c.795C>T | NP_001257376.1:p.Thr265= | |
| NM_001270448.2:c.498C>T | NP_001257377.1:p.Thr166= |